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Gene Symbol

CDKN2A

Synonyms

ARF | CAI2 | CDK4I | CDKN2 | CMM2 | INK4 | INK4A | MLM | MTS-1 | MTS1 | P14 | P14ARF | P16 | P16-INK4A | P16INK4 | P16INK4A | P19 | P19ARF | TP16

Gene Description

CDKN2A, cyclin-dependent kinase inhibitor 2A, is a tumor suppressor (PMID: 30562755) that encodes p16 and p14ARF from alternate reading frames, which function to inhibit Cdk4 and Cdk6 and regulate Tp53 activity to promote cell-cycle arrest (PMID: 23875803, PMID: 17055429, PMID: 27428416). CDKN2A germline mutations are associated with familial atypical multiple mole melanoma and somatic mutations are highest in pancreatic (PMID: 32273725), HNSCC, NSCLC, and melanoma (PMID: 27283171), and deletion of CDKN2A may be prognostic in IDH-mutant glioma (PMID: 32385699).

NCBI Gene ID	Chromosome	Map Location	Canonical Transcript	Gene Role
1029	9	9p21.3	NM_000077	Tumor suppressor (PMID: 30606230)

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Molecular Profile	Protein Effect	Treatment Approaches
CDKN2A A100S	no effect - predicted
CDKN2A A102fs	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A A102V	unknown
CDKN2A A109P	loss of function
CDKN2A A127fs	unknown
CDKN2A A127P	loss of function
CDKN2A A127S	unknown
CDKN2A A134T	no effect - predicted
CDKN2A A143T	no effect - predicted
CDKN2A A148T	unknown
CDKN2A A17fs	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A A20E	unknown
CDKN2A A20G	unknown
CDKN2A A20P	loss of function
CDKN2A A20S	no effect - predicted
CDKN2A A21P	unknown
CDKN2A A21V	unknown
CDKN2A A36G	unknown
CDKN2A A36P	loss of function
CDKN2A A36V	unknown
CDKN2A A36_N39delinsD	unknown
CDKN2A A57T	unknown
CDKN2A A57V	unknown
CDKN2A A60fs	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A A60R	loss of function
CDKN2A A60V	loss of function
CDKN2A A68fs	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A A68T	unknown
CDKN2A A68V	loss of function
CDKN2A A73D	unknown
CDKN2A A76fs	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A A76T	unknown
CDKN2A amp	no effect
CDKN2A C72*	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A C72fs	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A C72S	unknown
CDKN2A D108G	unknown
CDKN2A D108H	loss of function - predicted
CDKN2A D108N	unknown
CDKN2A D108V	unknown
CDKN2A D108Y	loss of function - predicted
CDKN2A D125fs	unknown
CDKN2A D125H	no effect - predicted
CDKN2A D14E	no effect - predicted
CDKN2A D14fs	loss of function - predicted
CDKN2A D14G	unknown
CDKN2A D14N	unknown
CDKN2A D74A	loss of function
CDKN2A D74F	unknown
CDKN2A D74G	unknown
CDKN2A D74H	unknown
CDKN2A D74N	loss of function
CDKN2A D74V	unknown
CDKN2A D74Y	loss of function - predicted
CDKN2A D84A	loss of function
CDKN2A D84G	loss of function
CDKN2A D84H	loss of function
CDKN2A D84N	loss of function
CDKN2A D84V	loss of function
CDKN2A D84Y	loss of function
CDKN2A dec exp	no effect
CDKN2A del	loss of function	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A del RB1 pos
CDKN2A del IDH1 mut
CDKN2A del IDH2 mut
CDKN2A del exon1-2	unknown
CDKN2A E119*	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A E119K	unknown
CDKN2A E119Q	no effect - predicted
CDKN2A E120*	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A E120D	unknown
CDKN2A E120K	unknown
CDKN2A E26D	no effect - predicted
CDKN2A E27del	unknown
CDKN2A E33fs	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A E61Q	unknown
CDKN2A E69*	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A E69fs	loss of function - predicted
CDKN2A E69G	unknown
CDKN2A E88*	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A E88Gfs*59	loss of function - predicted
CDKN2A E88K	loss of function
CDKN2A F90fs	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A G101R	no effect - predicted
CDKN2A G101V	loss of function - predicted
CDKN2A G101W	loss of function
CDKN2A G111D	unknown
CDKN2A G111S	no effect - predicted
CDKN2A G122V	unknown
CDKN2A G139R	no effect - predicted
CDKN2A G23A	no effect - predicted
CDKN2A G23C	loss of function - predicted
CDKN2A G23D	loss of function
CDKN2A G23fs	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A G23R	loss of function - predicted
CDKN2A G23S	unknown
CDKN2A G23V	loss of function - predicted
CDKN2A G35A	loss of function
CDKN2A G35E	no effect - predicted
CDKN2A G35R	no effect - predicted
CDKN2A G35V	loss of function
CDKN2A G35W	loss of function - predicted
CDKN2A G35_A36del	unknown
CDKN2A G45A	unknown
CDKN2A G45fs	loss of function - predicted
CDKN2A G45S	unknown
CDKN2A G67R	unknown
CDKN2A G67S	unknown
CDKN2A G89D	loss of function
CDKN2A H123Q	no effect - predicted
CDKN2A H142R	unknown
CDKN2A H66P	loss of function
CDKN2A H66R	no effect - predicted
CDKN2A H83D	unknown
CDKN2A H83N	loss of function - predicted
CDKN2A H83Q	unknown
CDKN2A H83R	unknown
CDKN2A H83Y	loss of function - predicted
CDKN2A H98P	loss of function
CDKN2A hypermethylation	unknown
CDKN2A I49S	loss of function
CDKN2A I49T	loss of function
CDKN2A inact mut	loss of function
CDKN2A L130Q	unknown
CDKN2A L130R	unknown
CDKN2A L130V	unknown
CDKN2A L16fs	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A L16P	loss of function
CDKN2A L16R	loss of function
CDKN2A L31R	loss of function
CDKN2A L31V	unknown
CDKN2A L32P	loss of function
CDKN2A L32_L37del	unknown
CDKN2A L62_E69del	unknown
CDKN2A L63Q	unknown
CDKN2A L63_P70del	unknown
CDKN2A L65fs	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A L65P	unknown
CDKN2A L78fs	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A L78Hfs*41	loss of function
CDKN2A L94P	loss of function - predicted
CDKN2A L97fs	loss of function - predicted
CDKN2A L97R	loss of function
CDKN2A LOH	unknown
CDKN2A loss	loss of function	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A loss NRAS mut
CDKN2A loss NRAS Q61K
CDKN2A loss PIK3CA act mut
CDKN2A loss PIK3CA E542K PTEN loss
CDKN2A loss PIK3CA E545K PIK3CA amp
CDKN2A loss PIK3CA E542K PIK3CA amp
BRAF V600E/K CDKN2A loss RB1 pos
BRAF V600E CDKN2A loss CHEK2 dec exp RB1 pos
BRAF V600E CDKN2A loss NRAS Q61K
BRAF V600E CDKN2A loss NRAS G12V
CDKN2A M52fs	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A M52I	unknown
CDKN2A M52L	unknown
CDKN2A M52R	unknown
CDKN2A M53I	loss of function
CDKN2A M9T	no effect - predicted
CDKN2A mutant	unknown
CDKN2A mut PIK3CA mut
BRAF V600E CDKN2A mut
CDKN2A mut NRAS act mut
CDKN2A N39_N42del	unknown
CDKN2A N42fs	loss of function - predicted
CDKN2A N42H	unknown
CDKN2A N42I	unknown
CDKN2A N42K	unknown
CDKN2A N42Y	unknown
CDKN2A N71I	loss of function
CDKN2A N71K	loss of function
CDKN2A N71S	loss of function
CDKN2A negative	loss of function
CDKN2A over exp	no effect
CDKN2A P114F	unknown
CDKN2A P114H	unknown
CDKN2A P114L	loss of function
CDKN2A P114S	loss of function
CDKN2A P114T	unknown
CDKN2A P11L	no effect - predicted
CDKN2A P41Q	no effect - predicted
CDKN2A P48L	loss of function
CDKN2A P48R	unknown
CDKN2A P70T	unknown
CDKN2A P75S	unknown
CDKN2A P81fs	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A P81L	loss of function
CDKN2A P81S	unknown
CDKN2A P81T	loss of function - predicted
CDKN2A positive	unknown
CDKN2A pos RB1 inact mut
CDKN2A Q50*	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A Q50fs	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A Q50H	unknown
CDKN2A Q50P	loss of function - predicted
CDKN2A Q50R	unknown
CDKN2A R112G	loss of function
CDKN2A R112P	unknown
CDKN2A R124C	no effect - predicted
CDKN2A R124H	no effect
CDKN2A R128fs	unknown
CDKN2A R128P	loss of function
CDKN2A R128W	loss of function - predicted
CDKN2A R131C	unknown
CDKN2A R138G	unknown
CDKN2A R144C	no effect - predicted
CDKN2A R24fs	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A R24P	loss of function
CDKN2A R24Q	unknown
CDKN2A R29_A34del	unknown
CDKN2A R58*	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A R58fs	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A R80*	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
BRAF V600E CDKN2A R80*
CDKN2A R80L	loss of function - predicted
CDKN2A R80P	unknown
CDKN2A R80Q	unknown
CDKN2A R87L	loss of function
CDKN2A R87P	loss of function
CDKN2A R87W	loss of function
CDKN2A R99G	no effect - predicted
CDKN2A R99P	loss of function - predicted
CDKN2A R99Q	unknown
CDKN2A rearrange	unknown
CDKN2A S12*	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A S12L	unknown
CDKN2A S43fs	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A S43I	unknown
CDKN2A S43Ifs*76	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A S56fs	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A S56I	loss of function
CDKN2A S56N	unknown
CDKN2A T18P	loss of function
CDKN2A T77fs	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A T77P	loss of function
CDKN2A T79fs	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A V106fs	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A V115L	unknown
CDKN2A V126D	loss of function
CDKN2A V28_E33del	unknown
CDKN2A V51I	unknown
CDKN2A V51Sfs*2	loss of function - predicted
CDKN2A V59fs	loss of function - predicted
CDKN2A V82E	unknown
CDKN2A V82fs	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A V82M	unknown
CDKN2A V96Afs*22	loss of function - predicted
CDKN2A W110*	loss of function	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A W110fs	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A W15*	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A W15fs	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A wild-type	no effect
CDKN2A Y129*	unknown
CDKN2A Y129C	unknown
CDKN2A Y44*	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A Y44C	unknown
CDKN2A Y44fs	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A Y44Lfs*76	loss of function - predicted	CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
CDKN2A Y44Tfs*9	loss of function - predicted